Aleksandra Siekierska

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Arvid Suls, Johanna A. Jaehn, Angéla Kecskés et al. · The American Journal of Human Genetics · 2013 · 219 citations · Full text

Chd2 Cause, Dravet Syndrome, Molecular Neuroscience +8

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Julian Schubert, Aleksandra Siekierska, Mélanie Langlois et al. · Nature Genetics · 2014 · 195 citations

Neurobiology Of Disease, Neurological Disorder, Genetic Disorder +10

G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling

Mirja Tamara Prentzell, Ulrike Rehbein, Marti Cadena Sandoval et al. · Cell · 2021 · 143 citations · Full text

Gain-of-function <i>FHF1</i> mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Aleksandra Siekierska, Mala Isrie, Yue Liu et al. · Neurology · 2016 · 79 citations · Full text

Structural hot spots for the solubility of globular proteins

Ashok Ganesan, Aleksandra Siekierska, Jacinte Beerten et al. · Nature Communications · 2016 · 73 citations · Full text